Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0581342
Disease: Redundant skin
Redundant skin 		48 2 16 0.20 1 8.3E-02
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 12 0.19 0 0
CUI: C1844592
Disease: Soft skin
Soft skin 		22 3 11 0.18 1 7.7E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		181 12 35 0.18 1 4.5E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 18 0.18 0 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 11 0.16 8 0.16
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		77 0 17 0.15 0 0
CUI: C0423757
Disease: Thin skin
Thin skin 		77 0 17 0.15 0 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		133 14 24 0.15 2 8.7E-02
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome 		111 29 20 0.14 4 0.11
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 10 0.14 0 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 0 9 0.13 0 0
CUI: C0086437
Disease: Joint laxity
Joint laxity 		224 15 31 0.13 1 4.0E-02
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		23 3 8 0.12 2 0.17
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		9 0 6 0.11 0 0
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		39 0 9 0.11 0 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure 		41 0 9 0.11 0 0
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		11 0 6 0.11 0 0
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		11 0 6 0.11 0 0
CUI: C0040962
Disease: Tricuspid Valve Prolapse
Tricuspid Valve Prolapse 		13 4 6 0.11 1 7.1E-02
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 0 6 0.11 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 9 0.10 0 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		102 25 14 0.10 2 5.9E-02
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 8 0.10 0 0
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		70 21 11 0.10 1 3.2E-02